[Tuberculous peritonitis in peritoneal dialysis]. / Peritonitis tuberculosa en diálisis peritoneal.

We report a patient in Automatic Peritoneal Dialysis (APD) with tuberculous peritonitis by possible peritoneal infection due to the proximity between fallopian tube and the left ovary, a peritoneal liquid culture was constantly negative. The patient presented a bad clinic evolution. Her only medical history was hypercalcemia six months before developing a peritonitis and occasionally nausea and vomits To confirm the diagnosis it was needed a peritoneal biopsy by means of a laparoscopy with a removal of the peritoneal catheter and left anexectomy. Now, the patient is asintomatic in daily home hemodialysis.

Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation.

OBJECTIVE: To examine the prevalence, distribution and spectrum of cardiac defects in chromosomally normal fetuses with increased nuchal translucency thickness. PATIENTS AND METHODS: During a 4-year period, targeted fetal echocardiography was used in 353 chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks' gestation. The cardiac scan was performed at 18-22 weeks. In the last 138 cases enrolled, an additional scan at 12-16 weeks was carried out. The follow-up included the findings at necropsy or in the pediatric examination. A complete follow-up was achieved in 97%. RESULTS: Cardiac defects were present in 32 (9.1%) cases, increasing from 5.3% in those with a nuchal translucency thickness of > or = 95th centile (3.9 mm) to 24% when thickness > or = 6 mm (p < 0.001). In 31 cases (97%), the cardiac defect was diagnosed antenatally; in 24 cases (77%) this diagnosis was confirmed later. In the remaining seven cases, the autopsy examination was not available. A wide range of cardiac defects was observed, with the most common being atrioventricular septal defect and tricuspid atresia. CONCLUSIONS: Euploid fetuses with increased nuchal translucency thickness have a significantly increased risk of cardiac defects. This is a marker of different types of heart anomalies and constitutes an additional indication for targeted fetal echocardiography. Most of the cardiac defects can be detected by fetal echocardiography.

Early prenatal diagnosis of major cardiac anomalies in a high-risk population.

OBJECTIVE: To examine the accuracy of early fetal echocardiography performed in a high-risk population combining transvaginal and transabdominal routes. METHODS: A series of 330 high-risk pregnancies were screened by transvaginal and transabdominal scan at 12-17 weeks' gestation in a prospective multicentre trial in Spain between September 1999 and May 2001. A total of 334 fetal heart examinations were performed, including four twin pregnancies. Maternal age ranged from 17 to 46 years (mean 33 years with 36% of women over 34 years). The median gestational age at scan was 14.2 weeks (range 12-17 weeks). For each fetus, visualization of the four-chamber view, the origin of the great arteries, aortic and ductal arches and systemic venous return was attempted in a segmental approach. B-mode and colour/pulsed Doppler flow imaging were used in all cases. The duration of complete heart examination was less than 30 minutes. The examinations were performed by three experienced operators. Reliability was assessed by conventional transabdominal echocardiography at 20-22 weeks, by postnatal follow-up in the first three months of life, and/or by autopsy in cases of termination of pregnancy. RESULTS: The rate of successful visualization of the fetal heart was 94.6% (316/334). In 48 out of 334 (14.4%) fetuses the final diagnosis was abnormal. In 38 out of 48 (79.2%) cases with heart defects the diagnosis was suspected at early echocardiography. In the group with congenital heart defects, 27 cases had an abnormal karyotype (56.3%) and 31 cases showed extracardiac anomalies (64.6%). There were 10 false-negative cases at early scan. There were no false-positive diagnoses. CONCLUSIONS: This experience stresses the usefulness of early fetal echocardiography when performed by expert operators on fetuses specifically at risk for cardiac disease. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy.

The role of ductus venosus blood flow assessment in screening for chromosomal abnormalities at 10-16 weeks of gestation.

OBJECTIVE: To evaluate the role of ductus venosus blood flow assessment at 10-16 weeks' gestation in screening for chromosomal abnormalities. METHODS: Ductus venosus blood flow was prospectively evaluated in 1371 consecutive pregnancies between 10 and 16 weeks of gestation. The pulsatility index for veins was calculated. All cases were screened for chromosomal defects combining maternal age and fetal nuchal translucency thickness. RESULTS: A chromosomal abnormality was found in 20 cases. The overall detection rate, specificity, positive predictive value, negative predictive value and odds ratio for chromosomal abnormalities were 65%, 95.7%, 18.3%, 99.5% and 41 (95% CI 16-108), respectively, when using the 95th centile pulsatility index as a cut-off. CONCLUSIONS: These preliminary results suggest that evaluation of the ductus venosus pulsatility index at 10-16 weeks' gestation is a useful second-line screening test for chromosomal defects. A combination of nuchal translucency measurement and ductus venosus assessment might increase specificity while maintaining an optimal detection rate for chromosomal abnormalities. Such a policy could identify 55% of all chromosomal abnormalities and about 69% of autosomal trisomies, reducing the need for invasive testing to less than 1%.

Prenatal diagnosis of isolated hypospadias.

Ten cases of prenatal diagnosis of isolated hypospadias are presented, six of them in the second trimester. The echographical basis for the suspected diagnosis of hypospadias are: anomalous distal morphology of the penis, small lateral folds (dermal remains of the prepuce), small penis with ventral incurving and anomalous urinary stream. The embryogenesis and the clinical utility of prenatal study of the genitals of the fetus, not only to determine the sex, but also to detect anomalies, are discussed.

Prenatal diagnosis of testicular torsion.

A case of the prenatal diagnosis of testicular torsion at 39 weeks' gestation is presented. The affected testicle was observed as a small rounded area of hypoechogenicity with a peripheral echogenic ring without hydrocele. The appearance was suggestive of the chronic phase of testicular torsion. The neonatal genital exploration confirmed the diagnosis.

[Complete congenital atrioventricular block. Prenatal diagnosis and perinatal management]. / Bloqueo auriculoventricular completo congénito. Diagnóstico prenatal y manejo perinatal.

OBJECTIVE: To describe our experience in prenatal diagnosis and perinatal management of congenital atrioventricular heart block, as well as pacemaker treatment in the neonate. MATERIAL AND METHODS: A total of 13 fetuses are included. The diagnosis of atrioventricular dissociation was established by Doppler heart rate sample in the right atrium to show the atrial activity while the sample in the Aorta reflected the ventricular heart rate. Gestational age at diagnosis, ventricular heart rates, autoimmune maternal pathology, maternal blood tests for autoantibodies antiRo+, congenital structural heart disease, fetal hydrops, maternal medical treatment, perinatal results and pacemaker neonatal implantation are described. RESULTS: Gestational age at diagnosis ranged between 22 and 32 (mean 27.6) weeks. Ventricular heart rates ranged between 32 to 80 (mean 54) beats/min. AntiRo+ antibodies were detected in 5 mothers, and clinical systemic lupus erythematosus was found in only one. Four had congenital heart disease (2 ventricular inversion and corrected TGA, 1 complete atrio-ventricular canal and 1 tricuspid atresia). Signs of heart failure and hydrops were detected in 9 fetuses. Treatment with beta-metasona and ritodrine was administered to 7 mothers when the ventricular heart rate dropped below 60 beats/min. Intrauterine fetal death occurred in 3 fetuses with structural congenital heart disease and hydrops. Delivery was performed by cesarean section in 8 preterm fetuses (one them a twins), 3 spontaneous deliveries at term and 3 stillbirth. Postnatal pacemaker implantation was carried out in 9 newborns (3 cases with unicameral temporal right ventricle electrode and 6 cases with permanent bicameral electrodes implanted through the subclavian vein and DDD pacemaker). Follow-up of the bicameral pacemaker group was satisfactory. CONCLUSION: Persistent fetal bradycardia is the first sign to diagnose prenatal complete atrioventricular heart block. Echocardiography asses fetal haemodynamic status and may detect signs of fetal deterioration. Hydrops and further drop in the ventricular heart rate warrant urgent cesarean section and pacemaker management of the newborn.

Early detection of reversed diastolic umbilical flow: should we offer karyotyping?

In normal pregnancy, end-diastolic flow appears in the umbilical artery around the 13th week of gestation, with a velocity which increases progressively with advancing gestation. The detection of reversed flow in the umbilical artery, the highest expression of an increase in placental vascular resistance, is extremely uncommon in the first half of gestation and, in three of the four cases reported in the literature, there were chromosomal abnormalities. We report a new case of reversed end-diastolic flow in the umbilical artery in a 13-week fetus with increased nuchal translucency thickness, megacystis and tachycardia. Cytogenetic analysis of chorionic villi and amniocytes revealed trisomy 13. The findings provide further evidence for a possible association between reversed end-diastolic flow in the umbilical artery and chromosomal abnormalities. However, the effectiveness of this potential marker in an unselected population requires further evaluation.

Routine prenatal ultrasound screening for fetal abnormalities: 22 years' experience.

We describe the results of routine obstetric ultrasound examination over a period of 22 years (1970-91) at the Institut Universitari Dexeus, Barcelona, Spain. A total of 1006 malformed fetuses or neonates were identified at abortion or delivery. The prevalence of fetal abnormalities was 3.03%. Fetal anomalies were diagnosed antenatally in 788 (78.33%) cases. Early prenatal diagnosis (before 22 weeks of gestation) was made in 598 (59.44%) cases. The detection of malformed fetuses increased from 19.75% in the first phase of the study (1970-74) to 96.33% in the last phase (1990-91). The specificity of the method was over 99% throughout the study period. The most frequently diagnosed anomalies were urinary tract anomalies (22.86% of cases), followed by head and neck anomalies (18.68%), musculoskeletal anomalies (8.64%), heart anomalies (7.35%) and gastrointestinal anomalies (7.35%). The earliest diagnosed malformations were those of the thoracoabdominal wall (81.08%), followed by defects of the urinary tract (70.86%) and of the diaphragm (70.83%).

Prenatal diagnosis of intrapericardial teratoma.

A case of intrapericardial teratoma diagnosed by ultrasound before birth is described. Planning for delivery and immediate neonatal intensive management allowed successful cardiac surgery, full resection of the tumour and full recovery.

Prenatal diagnosis of gastrointestinal tract obstructions.

The types of obstructive lesions of the gastrointestinal tract which can be diagnosed before birth are briefly reviewed. The importance of obtaining a karyotype in certain lesions (such as duodenal atresia) is stressed. The usefulness of the antenatal diagnosis of such lesions in planning obstetric management is stressed.

[Perinatal histories of 22 newborns with malformations of the central nervous system]. / Valoración de la historia perinatal y de la conducta obstétrica en los embarazos de neonatos con malformaciones del sistema nervioso central.

The authors reviewed the perinatal histories of 22 newborns malformations of the central nervous system, among 9,323 consecutive births in the last five years, with particular emphasis on the incidence and types of malformations, as well as the most important findings of the parents anamnesis. Prenatal ultrasonography is stressed out as an important tool in the precocious diagnosis of such a kind of malformations.